Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy

January 4, 2023 updated by: Milind Desai, The Cleveland Clinic

Genomic Sequencing in Patients With Hypertrophic Cardiomyopathy Undergoing Septal Myectomy

Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations. For this study, investigators have targeted hypertrophic cardiomyopathy.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The hypothesis is that sporadic or simplex occurrences of what are typically autosomal dominantly inherited diseases can instead be caused my mosaic mutations, specifically, mutations in the heart itself.

This hypothesis mandates that investigators sequence both affected and unaffected tissues, which in this case, investigators will construe to be peripheral blood DNA and discarded myocardium from cardiac procedures.

Eligible individuals will first undergo informed consent to be part of the study prior to their scheduled myomectomy. The study participants will also have phlebotomy for research samples.

The NIH Intramural Sequencing Center (NISC) will perform paired exome or genome sequencing and we will first screen for germline mutations in known cardiomyopathy genes that meet ACMG standards of likely pathogenic or pathogenic.

Then, if this is negative, investigators will screen for sequence variants that are present in cardiac tissue but absent in the blood DNA. Investigators will also screen blood DNA for secondary findings in genes recommended for annotation and results return by the ACMG and sequence variants deemed clinically relevant in this gene set will be validated in a CLIA-certified laboratory and the results returned to that participant.

Study Type

Observational

Enrollment (Actual)

25

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Ohio
      • Cleveland, Ohio, United States, 44195
        • Cleveland Clinic

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 100 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

18 years and older, scheduled for septal myectomy and no family history of HCM

Description

Inclusion Criteria:

  • Patient is 18 years and older has a clinical diagnosis of hypertrophic cardiomyopathy.
  • Patient scheduled for clinically-indicated myomectomy.
  • Patient has a negative family history of hypertrophic cardiomyopathy
  • Patient is willing to receive results of secondary variant screen

Exclusion Criteria:

  • Pregnant
  • Inability to give informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Genomic sequencing
Perform Genomic sequencing in peripheral blood DNA and discarded myocardium from cardiac procedures
Genetic: Genomic sequencing
Genomic sequencing of DNA in Blood sample and myectomy tissue

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genetic causes of HCM in patients without a strong family history of the condition
Time Frame: one year
The investigators will use DNA testing technology called "genomic sequencing"
one year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The Cleveland Clinic

Investigators

  • Principal Investigator: Milind Desai, MD, The Cleveland Clinic

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 30, 2018

Primary Completion (Actual)

December 4, 2020

Study Completion (Actual)

December 28, 2022

Study Registration Dates

First Submitted

February 2, 2017

First Submitted That Met QC Criteria

February 2, 2017

First Posted (Estimate)

February 3, 2017

Study Record Updates

Last Update Posted (Estimate)

January 6, 2023

Last Update Submitted That Met QC Criteria

January 4, 2023

Last Verified

January 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 17-090

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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